BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 36147814)

  • 1. Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.
    Rossi A; Turturo M; Albano L; Fecarotta S; Barretta F; Crisci D; Gallo G; Perfetto R; Uomo F; Vallone F; Villani G; Strisciuglio P; Parenti G; Frisso G; Ruoppolo M
    Front Pediatr; 2022; 10():895921. PubMed ID: 36147814
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
    Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
    Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
    Porta F; Chiesa N; Martinelli D; Spada M
    J Pediatr Endocrinol Metab; 2019 Feb; 32(2):101-108. PubMed ID: 30730842
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
    Lin Y; Gao H; Lin C; Chen Y; Zhou S; Lin W; Zheng Z; Li X; Li M; Fu Q
    Front Genet; 2019; 10():802. PubMed ID: 31555323
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
    Korman SH; Andresen BS; Zeharia A; Gutman A; Boneh A; Pitt JJ
    Clin Chem; 2005 Mar; 51(3):610-7. PubMed ID: 15615815
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening].
    Zhao H; Zhou D; Miao H; Chen C; Yang J; Yang R; Huang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):155-160. PubMed ID: 36709932
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
    Madsen PP; Kibaek M; Roca X; Sachidanandam R; Krainer AR; Christensen E; Steiner RD; Gibson KM; Corydon TJ; Knudsen I; Wanders RJ; Ruiter JP; Gregersen N; Andresen BS
    Hum Genet; 2006 Feb; 118(6):680-90. PubMed ID: 16317551
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Aspects of Newborn Screening in Isovaleric Acidemia.
    Schlune A; Riederer A; Mayatepek E; Ensenauer R
    Int J Neonatal Screen; 2018 Mar; 4(1):7. PubMed ID: 33072933
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
    Yang C; Shi C; Zhou C; Wan Q; Zhou Y; Chen X; Jin X; Huang C; Xu P
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):472-480. PubMed ID: 34704412
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
    Couce ML; Sánchez-Pintos P; Diogo L; Leão-Teles E; Martins E; Santos H; Bueno MA; Delgado-Pecellín C; Castiñeiras DE; Cocho JA; García-Villoria J; Ribes A; Fraga JM; Rocha H
    Orphanet J Rare Dis; 2013 Jul; 8():102. PubMed ID: 23842438
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
    Kanavin OJ; Woldseth B; Jellum E; Tvedt B; Andresen BS; Stromme P
    J Med Case Rep; 2007 Sep; 1():98. PubMed ID: 17883863
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
    Maguolo A; Rodella G; Dianin A; Nurti R; Monge I; Rigotti E; Cantalupo G; Salviati L; Tucci S; Pellegrini F; Molinaro G; Lupi F; Tonin P; Pasini A; Campostrini N; Ion Popa F; Teofoli F; Vincenzi M; Camilot M; Piacentini G; Bordugo A
    Mol Genet Metab Rep; 2020 Sep; 24():100632. PubMed ID: 32793418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 2-Methylbutyrylglycine induces lipid oxidative damage and decreases the antioxidant defenses in rat brain.
    Knebel LA; Zanatta Â; Tonin AM; Grings M; Alvorcem Lde M; Wajner M; Leipnitz G
    Brain Res; 2012 Oct; 1478():74-82. PubMed ID: 22967964
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Anderson DR; Viau K; Botto LD; Pasquali M; Longo N
    Mol Genet Metab; 2020 Jan; 129(1):13-19. PubMed ID: 31836396
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
    Chalmers RA; Roe CR; Stacey TE; Hoppel CL
    Pediatr Res; 1984 Dec; 18(12):1325-8. PubMed ID: 6441143
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
    Alfardan J; Mohsen AW; Copeland S; Ellison J; Keppen-Davis L; Rohrbach M; Powell BR; Gillis J; Matern D; Kant J; Vockley J
    Mol Genet Metab; 2010 Aug; 100(4):333-8. PubMed ID: 20547083
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
    Treem WR; Stanley CA; Goodman SI
    J Inherit Metab Dis; 1989; 12(2):112-9. PubMed ID: 2502671
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
    Westermann CM; de Sain-van der Velden MG; van der Kolk JH; Berger R; Wijnberg ID; Koeman JP; Wanders RJ; Lenstra JA; Testerink N; Vaandrager AB; Vianey-Saban C; Acquaviva-Bourdain C; Dorland L
    Mol Genet Metab; 2007 Aug; 91(4):362-9. PubMed ID: 17540595
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
    Gallant NM; Leydiker K; Tang H; Feuchtbaum L; Lorey F; Puckett R; Deignan JL; Neidich J; Dorrani N; Chang E; Barshop BA; Cederbaum SD; Abdenur JE; Wang RY
    Mol Genet Metab; 2012 May; 106(1):55-61. PubMed ID: 22424739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.
    Watanabe K; Yamada K; Sameshima K; Yamaguchi S
    Mol Genet Metab Rep; 2018 Jun; 15():121-123. PubMed ID: 30023301
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.